Potential diagnostic consequences of applying non-invasive prenatal testing (NIPT); a population-based study from a country with existing first trimester screening

OB Petersen*, Ida Vogel, C Ekelund, J Hyett, A Tabor, Danish Fetal Medicine Study Group andthe Danish Clinical Genetics Study Group, Helle Jeanette Zingenberg (Medlem af forfattergruppering), Anne-Cathrine Shalmi (Medlem af forfattergruppering), Finn Stener Jørgensen (Medlem af forfattergruppering), Karin Sundberg (Medlem af forfattergruppering)

*Corresponding author af dette arbejde
119 Citationer (Scopus)

Abstract

Non-invasive prenatal testing (NIPT) could be an alternative to traditional karyotyping. NIPT tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies. We aimed to determine the risk of missing other abnormal karyotypes of likely phenotypic significance by NIPT.

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